NGS панель «Моногенные заболевания» Carrier Screening BGI

ABCC4,ABCC6, ABCC8, ABCD4, ABCG2, ABCG5, ABCG8, ACAA1, ACAA2, ACAD8, ACADM, ACADS,ACADSB, ACADVL, ACAT1, ACE, ACSF3, ADA, ADD1, ADK, ADRB1, AGA, AGTR1, AHCY,AHI1, ALDH2, ALDH3A2, ALDOB, ALPL, AMT, ANKK1, ANTXR2, AOX1, AP2A2, APOE, ARG1,ARSA, ARSB, ASL, ASPA, ASS1, ATIC, ATM, ATP5E, ATP7B, ATP9A, ATPAF2, AUH,BCAT1, BCAT2, BCKDHA, BCKDHB, BCL11A, BDKRB2, BLM, BRSK2, BTBD12, BTD,C10orf11, C11orf21, C11orf65, C12orf29, C15orf34, C16orf35, C18orf8, C3orf24,C5orf33, C5orf42, CAPN3, CARS, CBS, CC2D2A, CEP290, CEP55, CFTR, CHIA, CHID1,CHRNA10, CLCN1, CLN3, CLN5, CLN6, COL17A1, COL22A1, COL4A3, COL4A4, COL7A1,COMT, COQ2, CPS1, CPT1A, CPT2, CRHR1, CTNS, CTSD, CYP1A2, CYP24A1, CYP2C19,CYP2C8, CYP2C9, CYP4A11, CYP4F2, DBT, DHCR7, DLD, DLG4, DNAH3, DNAJC19, DNMT3B,DYSF, EPHX1, EPM2A, ERCC4, ERCC6, ETFA, ETFB, ETFDH, ETHE1, EVC2, FAH, FANCA,FANCC, FANCD2, FANCG, FANCI, FKBP5, FRAG1, FRAP1, G6PC, GAA, GALC, GALK1,GALNS, GALT, GBA, GBE1, GCDH, GCH1, GCSH, GJB2, GLB1, GLDC, GLP1R, GNMT, GNS,GP1BA, GSTP1, HACL1, HADH, HADHA, HADHB, HAL, HBA1, HBA2, HBM, HBQ1, HBS1L,HBZ, HEXA, HFE2, HGSNAT, HLCS, HMGCL, HMGCR, HMGCS2, HPD, HPS1, HPS3, HTR2A,ICOS, IDUA, IGF2, IGF2AS, IKBKAP, IL28B, INS-IGF2, ITFG3, ITPA, IVD, KCNE1,KCNJ1, KCNJ11, KCNQ1, KCNQ1OT1, KIF6, KLF1, KLRD1, KNG1, LAMA3, LAMB2, LAMB3,LAMC2, LIPT1, LMBRD1, LRP1B, LRP5, LUC7L, MAN2B1, MAT1A, MCCC1, MCCC2, MCEE,MCOLN1, MED23, MEFV, MFSD8, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1,MPG, MRPL23, MTHFR, MTR, MTRR, MUC5AC, MUC5B, MUC6, MUT, MYB, MYEF2, NAGLU,NAGS, NAP1L4, NAT2, NCRNA00119, NEB, NEDD4L, NICN1, NOS1AP, NOS3, NPC1, NPC2,NPHP3, NPHS1, NUDT15, NUP98, OAT, OCA2, OPA3, OPRD1, OPRM1, OR11G2, OR1L1,OR51B2, OR51B4, OR51S1, OR51V1, OR52A4, OR52A5, OSBPL5, PAH, PCBD1, PCCA, PCCB,PDDC1, PEX1, PEX11A, PGBD3, PKD1L1, PKHD1, PLA2G6, PMM2, POLG, POLR3K, PON1,PPT1, PRF1, PRKCA, PTS, QDPR, RAD51C, RAG1, RAG2, RGS11, RHBDF1, RNF10, RRM1,SACS, SCN1A, SCN2A, SERAC1, SERPINA1, SERPINB5, SFXN4, SGCA, SGCG, SGSH,SLC12A3, SLC12A6, SLC22A1, SLC22A18, SLC22A5, SLC24A5, SLC25A13, SLC25A15,SLC25A20, SLC26A1, SLC26A4, SLC37A4, SLC45A2, SLC47A2, SLCO1B1, SMN1, SMPD1,SNRNP25, SOD1, SPG11, SPINK5, SQSTM1, STIM1, STX11, STXBP2, SUCLA2, SYCE2, TAT,TCIRG1, TGM1, TH, TJP2, TMEM216, TMEM67, TMEM70, TMPPE, TOLLIP, TPMT, TPP1,TRPM5, TSNARE1, TSPAN3, TTC37, TYR, TYRP1, UGT2B15, UNC13D, USPL1, VDR, VKORC1,WFS1, WSCD1, ZNF27.